Aliases for SOX14 Gene
External Ids for SOX14 Gene
Previous GeneCards Identifiers for SOX14 Gene
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX14 Gene
SOX14 (SRY-Box 14) is a Protein Coding gene. Diseases associated with SOX14 include Epicanthus. Among its related pathways are Circadian rythm related genes and ERK Signaling. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and chromatin binding. An important paralog of this gene is SOX21.
UniProtKB/Swiss-Prot for SOX14 Gene
Acts as a negative regulator of transcription.